OMIA:000437-9541 : Haemophilia A in Macaca fascicularis (crab-eating macaque) |
In other species: dog , domestic cat , horse , pig , taurine cattle , sheep
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 306700 (trait) , 300841 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: Also called factor VIII deficiency. Impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked. As with haemophilia B, this expectation has been confirmed in all species of mammal in which the disorder has been reported. In humans, there are hundreds of different mutations that give rise to haemophilia A. In domesticated animals, the disorder has been reported in a large range of species.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000437-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2022 | Elkouby, L., Armour, S.M., Toso, R., DiPietro, M., Davidson, R.J., Nguyen, G.N., Willet, M., Kutza, S., Silverberg, J., Frick, J., Crosariol, M., Wang, Y., Wang, C., High, K.A., Sabatino, D.E., Anguela, X.M. : |
| Preclinical assessment of an optimized AAV-FVIII vector in mice and non-human primates for the treatment of hemophilia A. Mol Ther Methods Clin Dev 24:20-29, 2022. Pubmed reference: 34977269. DOI: 10.1016/j.omtm.2021.11.005. |
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- Created by Imke Tammen2 on 21 Jan 2022